11/19/2015

Имя:  Karen   AGE: 61 yrs. old

Страна: Соединенные Штаты

LGMD Подтип: LGMD1B / Laminopathy

 

В каком возрасте вам был поставлен диагноз:

I was diagnosed when I was 54 yrs. old.

Каковы были ваши первые симптомы:

My first symptoms included:  falling, inability to climb stairs and difficulty lifting.

Есть ли у вас другие члены семьи, страдающие LGMD:

My sister, her son and his daughter,  her daughter, and a brother all have the same diagnosis.  There have been 2 that were also tested and do not have it.  LGMD1B has an autosomal dominant inheritance pattern which means that typically this disease appears in every generation without skips.

Что, по вашему мнению, является наибольшей проблемой в жизни с LGMD:

The greatest challenges for me include:  getting around, being able to get up when I sit, bathroom problems, lifting, being able to reach items, loading walker in car alone, walking, shopping, and getting dressed.

Какое ваше самое большое достижение:

For me, my greatest accomplishments include raising my kids and working with school children for 18 years.

Как LGMD повлиял на то, что вы стали тем человеком, которым являетесь сегодня:

It makes me more sympathetic to others and their issues.  I am feeling blessed to have family members around.  I  appreciate what I have left.

Что вы хотите, чтобы мир узнал о LGMD

Not all disabilities are immediately visible. Some of us might not look like anything is wrong and yet people judge us. I get plenty of stares when I park in a handicap parking space. I get the look…until I have to get a cart to even walk.    I wish that more people knew how to help us –  when we fall, etc.

It is frustrating that a lot of people do not know and understand the difference between MD and MS.  I say I have MD and they still say MS.

Если бы ваш LGMD можно было "вылечить" завтра, что бы вы хотели сделать в первую очередь:

I would want to be able to hold as well as sit down and play with my granddaughter.

Чтобы прочитать другие интервью "LGMD Spotlight Interviews" или стать добровольцем для участия в предстоящем интервью, посетите наш сайт: https://www.lgmd-info.org/spotlight-interviews.